A joint NCBI and EMBL-EBI transcript set for clinical genomics and research.

ABSTRACT: Comprehensive genome annotation is essential to understand the impact of clinically relevant variants. However, the absence of a standard for clinical reporting and browser display complicates the process of consistent interpretation and reporting. To address these challenges, Ensembl/GENCODE¹ and RefSeq² launched a joint initiative, the Matched Annotation from NCBI and EMBL-EBI (MANE) collaboration, to converge on human gene and transcript annotation and to jointly define a high-value set of transcripts and corresponding proteins. Here, we describe the MANE transcript sets for use as universal standards for variant reporting and browser display. The MANE Select set identifies a representative transcript for each human protein-coding gene, whereas the MANE Plus Clinic

SUBMITTER: Morales J 

PROVIDER: S-EPMC9007741 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature